PPMD Community

October 2009 Blog Posts (8)

Need Information on carriers

My grandson, now 4years old, was diagnosed with DMD about a year and a half ago. There is no known history of MD in the family. My daughter tested positive as a carrier. Does anyone know whether or not being a carrier can be a fluke, or can it skip a couple of generations? I also wonder how other mothers that are carriers, deal with the guilt of passing this to their child? My daughter has massive, massive guilt over passing DMD to her son.

Added by Jan Colenso on October 29, 2009 at 7:28pm — 2 Comments

Electric Bike Conversion



After many months of searching, then another of getting the blasted thing installed correctly, Sam finally has a bike he can ride without tiring out. His bike is just a cheap Mongoose from WalMart. The electric conversion is made by Wilderness Energy. I was so glad to find someone made one for a 16" bike. It's very heavy, but it works. Took a bit of rigging and adjusting to get installed, but the smile on his face was well worth… Continue

Added by Laurie Paschal on October 15, 2009 at 10:12pm — 1 Comment


Staff
BIG PHARMA

It is exactly what we were hoping for. Exactly what we dreamed about long ago. Big Pharma in the form of GSK has made a deal with Prosensa. PPMD and many other organizations have provided seed funding… funding in small bits to grow the work at each step along the way with the understanding that success would attract money and partnerships. The strategy worked!



Today is monumental for Duchenne.



Some months ago, I presented at BIO. Rare Disease was a focus of one of the… Continue

Added by Pat Furlong on October 13, 2009 at 3:00pm — 13 Comments

Changing the rules

Patrick plays piano. He took lessons from a classically trained instructor after he decided voice lessons were just too boring. Patrick enjoyed Mrs. Wingfield's lessons and worked hard to please her. When she passed away he decided he didn't want a replacement and took time off from playing. Slowly he started playing again and now plays almost daily.



He truly has a gift and I enjoy listening to him. I'll be working on the computer banging away at the keys when he wheels up to the… Continue

Added by Brian Denger on October 12, 2009 at 8:57pm — 2 Comments

Are we supposed to know?

We just got back from the neurologists office where we got the DNA test results back. This is the test done at Athena Diagnostics and it did not shed any light on the subject at all. The results came back as - "This analysis did not detect any deletion/duplication nor any abnormal DNA sequence variants in this individual's DMD gene." So after 3 DNA tests and a muscle biopsy all we know is that there was very little dystrophin found in his muscle sample. None of this changes anything, so maybe… Continue

Added by Susan Rathfelder on October 8, 2009 at 4:02pm — 3 Comments


Staff
Abstracts of articles do not tell the full story.

Recently published paper suggests benefit (equal to prednisone). While the abstract sounds wonderful, the article is much less convincing. I suspect this will run through the community, so thought it might be useful to give you a head's up.

Efforts to standardize measurements are underway at major institutions. Studies like this, making major claims, must be repeated and data confirmed (or not), It is essential to repeat this study as it would provide critical information for us as we make… Continue

Added by Pat Furlong on October 6, 2009 at 2:19pm — 3 Comments

Behavioral Problems

Hi all,



I wanted to know if any of you have experienced and major behavioral problems with your child? My son will be 3 in March and is really going through a major issue with his behavior. I am told by people that it's just the terrible two's and it will get better, but it seems more serious than that. I have read that learning disabilities may occur with a Duchenne boy but he does not lack intelligence, in fact he is very smart. He does well in school and is very social. Any advice… Continue

Added by Windy Jackerson on October 6, 2009 at 1:12pm — 2 Comments

New Blog

We've moved the blog to http://servaisdmd.blogspot.com. We aren't doing much in the community site lately.

Added by Servais Family on October 3, 2009 at 10:11pm — No Comments

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